| Contributed by: Anju Shukla | ||
| Email: dranju2003@yahoo.co.in | ||
| An 8-years-old girl had clinical features of cloverleaf skull, telecanthus, midface retrusion, brachydactyly, cutaneous syndactyly, postaxial polydactyly, broad thumbs and great toes with normal intelligence and presence of brachymesophalangy on radiography. Identify the condition. |
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Please send your responses to editor@iamg.in |
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| Answer to PhotoQuiz 27 |
| Congenital Contractural Arachnodactyly |
| Congenital Contractural Arachnodactyly (Beals syndrome; OMIM #121050) is a rare autosomal dominant connective tissue disorder caused by mutation in FBN2 (Fibrillin-2) gene. It is characterized by a Marfanoid habitus, contractures, arachnodactyly, scoliosis, crumpled ears and rarely aortic dilatation. |
| Correct responses were given by: |
| 1. Girish Subramaniam, Nagpur |
| 2. Prashanth Verma, Saudi Arabia |
| 3. Rekha Goyal, Jaipur |
| 4. Niby J Elackatt, Bengaluru |
| 5. Beena S, Chennai |
| 6. Ravi Goyal, Kota, Rajasthan |